BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

297 related articles for article (PubMed ID: 18555667)

  • 1. Clinical and genetic analysis of Fabry disease: report of six cases including three heterozygous females.
    Nagasaki A; Nishie W; Sato K; Oba I; Noguchi E; Akitsu H; Sawamura D; Shimizu H
    J Dermatol Sci; 2008 Oct; 52(1):61-4. PubMed ID: 18555667
    [No Abstract]   [Full Text] [Related]  

  • 2. A case of multiple angiomas without any angiokeratomas in a female heterozygote with Fabry disease.
    Mirceva V; Hein R; Ring J; Möhrenschlager M
    Australas J Dermatol; 2010 Feb; 51(1):36-8. PubMed ID: 20148840
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.
    Shabbeer J; Robinson M; Desnick RJ
    Hum Mutat; 2005 Mar; 25(3):299-305. PubMed ID: 15712228
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.
    Germain DP; Poenaru L
    Biochem Biophys Res Commun; 1999 Apr; 257(3):708-13. PubMed ID: 10208848
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A missense mutation, A156T, in the alpha-galactosidase A gene causes typical Fabry disease.
    Konoshita T; Mutoh H; Yokoi T; Koni I; Miyamori I; Mabuchi H
    Clin Nephrol; 2001 Mar; 55(3):243-7. PubMed ID: 11316246
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Evaluation of patients with Fabry disease in Argentina].
    AADELFA (Asociación Argentina de estudio de enfermedad de Fabry y otras enfermedades lisosomales)
    Medicina (B Aires); 2010; 70(1):37-43. PubMed ID: 20228022
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Japanese patients with Fabry disease predominantly showing cardiac and neurological manifestation with novel missense mutation: R220P.
    Fukutomi M; Tanaka N; Uchinoumi H; Kanemoto M; Nakao F; Yamada J; Kamei T; Takenaka T; Fujii T
    J Cardiol; 2013 Jul; 62(1):63-9. PubMed ID: 23608164
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Enzyme activity for determination of presence of Fabry disease in women results in 40% false-negative results.
    Linthorst GE; Poorthuis BJ; Hollak CE
    J Am Coll Cardiol; 2008 May; 51(21):2082; author reply 2082-3. PubMed ID: 18498967
    [No Abstract]   [Full Text] [Related]  

  • 9. Two novel alpha-galactosidase A mutations causing Fabry disease: A missense mutation M11V in a heterozygote woman and a nonsense mutation R190X in a hemizygote man.
    Celtikci B; Topçu M; Ozkara HA
    Clin Biochem; 2011 Jul; 44(10-11):809-12. PubMed ID: 21569769
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel alpha-galactosidase A mutation in a female with recurrent strokes.
    Tuttolomondo A; Duro G; Miceli S; Di Raimondo D; Pecoraro R; Serio A; Albeggiani G; Nuzzo D; Iemolo F; Pizzo F; Sciarrino S; Licata G; Pinto A
    Clin Biochem; 2012 Nov; 45(16-17):1525-30. PubMed ID: 22820434
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease.
    Lin HY; Chong KW; Hsu JH; Yu HC; Huang CH; Niu DM
    Hum Genet; 2010 Jan; 127(1):124. PubMed ID: 20108438
    [No Abstract]   [Full Text] [Related]  

  • 12. Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease.
    Niu DM; Lin HY; Chong KW; Hsu JH; Yu HC; Huang CH
    Hum Genet; 2010 Jan; 127(1):122. PubMed ID: 20108436
    [No Abstract]   [Full Text] [Related]  

  • 13. Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease.
    Lin HY; Niu DM; Chong KW; Hsu JH; Yu HC; Huang CH
    Hum Genet; 2010 Jan; 127(1):122-3. PubMed ID: 20108401
    [No Abstract]   [Full Text] [Related]  

  • 14. Absence of cornea verticillata in hemizygotes of a novel mutation in fabry disease.
    Huerva V; Martín M; Canto LM; Yagüe J
    Cornea; 2008 Sep; 27(8):970-2. PubMed ID: 18724168
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Disease manifestations and X inactivation in heterozygous females with Fabry disease.
    Maier EM; Osterrieder S; Whybra C; Ries M; Gal A; Beck M; Roscher AA; Muntau AC
    Acta Paediatr Suppl; 2006 Apr; 95(451):30-8. PubMed ID: 16720462
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Biochemical study of unusual cases of Fabry disease].
    Beĭer EM; Karpova EA; Udalova OV; Tsvetkova IV
    Vopr Med Khim; 1998; 44(5):494-500. PubMed ID: 9916266
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Identification of a novel mutation in the alpha-galactosidase A gene in patients with Fabry disease.
    Colomba P; Nucera A; Zizzo C; Albeggiani G; Francofonte D; Iemolo F; Tuttolomondo A; Pinto A; Duro G
    Clin Biochem; 2012 Jul; 45(10-11):839-41. PubMed ID: 22465271
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Fabry disease].
    Jakubowska E; Ryba M; Hruby Z
    Przegl Lek; 2006; 63(4):218-9. PubMed ID: 17080745
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel alpha-galactosidase a mutant (M42L) identified in a renal variant of Fabry disease.
    Rosenthal D; Lien YH; Lager D; Lai LW; Shang S; Leung N; Fervenza FC
    Am J Kidney Dis; 2004 Nov; 44(5):e85-9. PubMed ID: 15492942
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Fabry disease: data from four families].
    Slee PH; van Boven LJ; Slee DS
    Ned Tijdschr Geneeskd; 2000 Dec; 144(50):2412-5. PubMed ID: 11145098
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.